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Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child
Amish nemaline myopathy (ANM) is a severe congenital form of NM, known to be fatal in early childhood due to pulmonary insufficiency. Homozygous mutations in TNNT1 were originally ascertained in an Older Amish community in 2000. To date, only five reports with six pathogenic variants in TNNT1 have b...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Eur J Med Genet |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7237049/ https://ncbi.nlm.nih.gov/pubmed/30395933 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2018.11.001 |
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